ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2927-2A>G

dbSNP: rs1057517531
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412213 SCV000487749 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-10-20 criteria provided, single submitter clinical testing
Counsyl RCV000410270 SCV000487750 likely pathogenic Peroxisome biogenesis disorder 1B 2016-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001379134 SCV001576875 likely pathogenic Zellweger spectrum disorders 2022-07-11 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371784). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 18 of the PEX1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025).
Baylor Genetics RCV003475992 SCV004203318 likely pathogenic Heimler syndrome 1 2023-07-13 criteria provided, single submitter clinical testing

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